Thomaidis L, Fryssira H, Katsarou E, Metaxotou C
Genetic Unit, 1st Department of Paediatrics, Athens University, "Aghia Sophia" Children's Hospital, Goudi, P.C. 115 27, Athens, Greece.
Eur J Pediatr. 1999 Oct;158(10):838-41. doi: 10.1007/s004310051218.
Cohen syndrome is a rare genetic disorder consisting of truncal obesity, hypotonia, mental retardation, characteristic facial appearance and ocular anomalies. Other diagnostic clinical features include narrow hands and feet, low growth parameters, neutropenia and chorioretinal dystrophy. We describe the similarities in the clinical and developmental profile of two siblings with Cohen syndrome, providing evidence for autosomal recessive inheritance in this condition.
The diagnosis of Cohen syndrome should be suspected in mentally retarded children with the above characteristics. Neutropenia and ocular anomalies with high-grade myopia and chorioretinal dystrophy are also considered important findings and can aid in the clinical diagnosis especially at an early age.
科恩综合征是一种罕见的遗传性疾病，其特征包括躯干肥胖、肌张力减退、智力发育迟缓、特征性面容和眼部异常。其他诊断性临床特征包括手足狭窄、生长指标低、中性粒细胞减少和脉络膜视网膜营养不良。我们描述了两名患有科恩综合征的兄弟姐妹在临床和发育方面的相似之处，为这种疾病的常染色体隐性遗传提供了证据。
对于具有上述特征的智力发育迟缓儿童，应怀疑患有科恩综合征。中性粒细胞减少以及伴有高度近视和脉络膜视网膜营养不良的眼部异常也被认为是重要的发现，尤其在早期有助于临床诊断。
